ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497128 SCV000588435 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Mendelics RCV003326442 SCV002518484 pathogenic Familial hypobetalipoproteinemia 1 2023-09-09 criteria provided, single submitter clinical testing
Invitae RCV002524065 SCV003524175 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431499). This premature translational stop signal has been observed in individual(s) with low low-density lipoprotein cholesterol (PMID: 24507775). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1551*) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471).

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